Helbecque N, Richard F, Cottel D, Neuman E, Guez D, Amouyel P
INSERM CJF 95-05, Institut Pasteur de Lille, France.
Alzheimer Dis Assoc Disord. 1998 Dec;12(4):368-71. doi: 10.1097/00002093-199812000-00019.
The epsilon4 allele of the apolipoprotein E gene (APOE) constitutes a major genetic susceptibility factor for Alzheimer disease (AD). Recently, a polymorphic triplet (CGG) in the very low density lipoprotein receptor (VLDL-R) gene, coding for a receptor binding only apoE-containing lipoproteins, was associated with AD in a Japanese population but not in Caucasian American populations. We explored this association and the potential interaction with the APOE polymorphism in a Caucasian sample of sporadic AD and control subjects of similar ages of European origin. The allelic distribution of the VLDL-R polymorphism differed significantly between Japanese and Caucasian populations (p < 0.0001). However, in our population, the presence of at least one VLDL-R 5 repeat allele increased significantly (p < 0.0003) the probability to develop AD after 65 years of age in APOE epsilon4 allele bearers.
载脂蛋白E基因（APOE）的ε4等位基因是阿尔茨海默病（AD）的主要遗传易感因素。最近，极低密度脂蛋白受体（VLDL-R）基因中的一个多态三联体（CGG）与AD相关，该基因编码的受体仅结合含载脂蛋白E的脂蛋白，在日本人群中发现了这种关联，但在美籍高加索人群中未发现。我们在年龄相仿、欧洲血统的散发性AD白种人样本和对照受试者中探究了这种关联以及与APOE多态性的潜在相互作用。VLDL-R多态性的等位基因分布在日本人和白种人群体之间存在显著差异（p < 0.0001）。然而，在我们的人群中，对于携带APOE ε4等位基因的个体，至少存在一个VLDL-R 5重复等位基因会显著增加（p < 0.0003）65岁后患AD的概率。
